Canonical Allele Identifier: CA2560501691
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.88981174T>C , CM000670.2:g.88981174T>C GRCh38
NC_000008.10:g.89993403T>C , CM000670.1:g.89993403T>C GRCh37
NC_000008.9:g.90062519T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_002956667.1:n.179-99113A>G